X-linked congenital generalized hypertrichosis
Synonyms: Congenital generalized hypertrichosis, Macias-Flores type · Macias Flores-Garcia Cruz-Rivera syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked dominant
- Status
- active
X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked congenital generalized hypertrichosis | Congenital generalized hypertrichosis, Macias-Flores type · Macias Flores-Garcia Cruz-Rivera syndrome |
| fr | Hypertrichose congénitale généralisée liée à l'X | Hypertrichose congénitale généralisée type Macias-Flores |
| de | Hypertrichose, generalisierte kongenitale, X-chromosomale | Hypertrichose, generalisierte kongenitale, Typ Macias-Flores · Macias Flores-Garcia Cruz-Rivera-Syndrom |
| es | Hipertricosis congénita generalizada ligada al cromosoma X | Hipertricosis congénita generalizada tipo Macias-Flores · Síndrome de Macias Flores-Garcia Cruz-Rivera |
| it | Ipertricosi generalizzata congenita legata all'X | Ipertricosi generalizzata congenita, tipo Macias-Flores · Sindrome di Macias Flores-Garcia Cruz-Rivera |
| nl | X-gebonden congenitale gegeneraliseerde hypertrichose | Congenitale gegeneraliseerde hypertrichose, Macias-Flores-type · Syndroom van Macias Flores-Garcia Cruz-Rivera |
| pt | Síndrome de Macias Flores-Garcia Cruz-Rivera | |
| pl | Wrodzona uogólniona hipertrichoza sprzężona z chromosomem X | Wrodzona uogólniona hipertrichoza, typ Macias i Flores · Zespół Macias Flores, Garcia Cruz i Rivera |
| cs | X-vázaná vrozená generalizovaná hypertrichóza | Vrozená generalizovaná hypertrichóza, Macias Floresův typ · Macias Floresův-Garcia Cruzův-Riverův syndrom · Macias Flores-Garcia Cruz-Riverův syndrom |
| uk | Х-зчеплений вроджений генералізований гіпертрихоз | Вроджений генералізований гіпертрихоз, тип Масіаса-Флореса · Синдром Масіаса Флореса-Гарсія Круза-Рівери |
| zh | X连锁先天性全身型多毛症 | 先天性全身多毛症， Macias-Flores型 |
| tr | X'e bağlı doğumsal jeneralize hipertrikoz | Macias Flores-Garcia Cruz-Rivera sendromu · Doğumsal jeneralize hipertrikoz, Macias-Flores tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 307150 | E | validated | |
| ICD-10 | Q84.2 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0010614 | E | validated | |
| MeSH | C538388 | E | validated | |
| UMLS | C1855900 | E | validated | |
| GARD | 2863 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:2222Hypertrichosis lanuginosa congenita
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SOX3 | Disease-causing germline mutation(s) in | Assessed | HGNC:11199 | ENSG00000134595 | 313430 | Xq27.1 | SRY-box transcription factor 3 | 21636067[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79495
- This record as JSON: /data/d/79495.json